Activating calcium-sensing receptor gene variants in China: a case report of hypocalcaemia and literature review
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Shuzhen Guo
Abstract
Objectives
Autosomal dominant hypocalcaemia 1 (ADH1) is a rare autosomal dominant genetic disease, due to the activating mutations of the calcium-sensing receptor (CASR) gene. The current paper presents a severe case of ADH1 with intellectual backwardness, and systematically reviews the reported 17 ADH1 patients in China.
Case presentation
A 7 years old boy with recurrent seizures over 1 year was admitted at Yuying children’ hospital, the clinical centre of south province of Zhejiang. Auxiliary examinations demonstrated hypocalcaemia, hyperphosphatemia, hypomagnesemia, hypercalciuria, low parathyroid hormone (PTH), basal ganglia calcifications, normal range of serum creatinine, and 25-hydroxyvitamin D. Wechsler’s intelligence test result indicated intellectually backward. The patient’s genotype found a heterozygous variant in CASR gene, c.T416C p. (Ile139Thr). This article also systematically reviews the literatures on ADH1 in China and summarises the clinical characteristics and treatment.
Conclusions
ADH1 can be a cause of idiopathic hypoparathyroidism. Recognition and rational treatment is important for symptom improvement and reducing high potential adverse effects.
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Research funding: None declared.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission. Shuzhen Guo and Xiaolin Li contributed to analysis all data for the work. Xiaoou Shan contributed to conceptualization and design. Shuzhen Guo wrote the original draft of the manuscript. Xiaolin Li and Xiaoou Shan critically reviewed and edited the manuscript.
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Competing interests: Authors state no conflict of interest.
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Informed consent: We obtained written consent for publication of this case report from patient’s father.
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Ethical approval: We obtained ethical committee clearance from Institutional Ethical Committee to publish this case report (IEC code: 2022-K-144-01).
References
1. Wong, WC, Lam, CW, Tong, SF, Tong, CT. Persistent hypocalcaemia in a Chinese girl due to a novel de-novo activating mutation of the calcium-sensing receptor gene. Hong Kong Med J 2011;17:157–60.Search in Google Scholar
2. Wang, Y, Nie, M, Wang, O, Li, Y, Jiang, Y, Li, M, et al.. Genetic screening in a large Chinese cohort of childhood onset hypoparathyroidism by next-generation sequencing combined with TBX1-MLPA. J Bone Miner Res 2019;34:2254–63. https://doi.org/10.1002/jbmr.3854.Search in Google Scholar PubMed
3. Song, FY, Du, M, Dong, Q, Yin, H, Gao, K, Chen, XB. [Clinical and genetic characteristics of primary hypoparathyroidism in children]. Zhonghua Er Ke Za Zhi Chin J Paediatr 2020;58:917–22. https://doi.org/10.3760/cma.j.cn112140-20200317-00258.Search in Google Scholar PubMed
4. Sun, H, Chen, LQ, Wang, XM, Wang, J, Xie, RR, Wu, HY, et al.. Autosomal dominant hypocalcemia type 1:one case and literature review. Chin J Endocrinol Metab 2018;34:336–9.Search in Google Scholar
5. Ji, Y, Kang, C, Chen, J, Zhang, L. Identification of p.Arg205Cys in CASR in an autosomal dominant hypocalcaemia type 1 pedigree: a case report. Medicine 2021;100:e26443. https://doi.org/10.1097/md.0000000000026443.Search in Google Scholar
6. Ning, J, Qiao, L. [Analysis of CASR gene variant in a child with idiopathic epilepsy and autism]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2022;39:309–11. https://doi.org/10.3760/cma.j.cn511374-20201209-00862.Search in Google Scholar PubMed
7. Lienhardt, A, Bai, M, Lagarde, JP, Rigaud, M, Zhang, Z, Jiang, Y, et al.. Activating mutations of the calcium-sensing receptor: management of hypocalcemia. J Clin Endocrinol Metab 2001;86:5313–23. https://doi.org/10.1210/jcem.86.11.8016.Search in Google Scholar PubMed
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Articles in the same Issue
- Frontmatter
- Original Articles
- Comparison of internet usage and internet addiction scores in healthy children and children with type 1 diabetes mellitus
- Prevalence of nonalcoholic fatty liver disease increased with type 2 diabetes mellitus in overweight/obese youth with polycystic ovary syndrome
- Comparison of regular with NPH insulin vs. premix insulin in children and adolescents with type 1 diabetes in a resources-limited setting: a retrospective data analysis
- Comparative analyses of surrogates of metabolic syndrome in children and adolescents with metabolically healthy obesity vs. metabolically unhealthy obesity according to Damanhoury’s criteria
- Response to vitamin D replacement therapy in obese children and adolescents with vitamin D deficiency: a randomized controlled trial
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- Benefits and risks evaluation of recombinant human growth hormone replacement therapy in children with GHD after craniopharyngioma surgery
- Copeptin levels in hospitalized infants and children with suspected vasopressin-dependent disorders: a case series
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